GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by Inheritance Mode


S.No.  Genetic Disorders (Gentigs update)
Modes of inheritance
Category Gene symbol  Links Indian
context
341 Syndromic microphthalmia type 5  (Dec 29, 2023)
Autosomal dominant
Eye disorders OTX2 orthodenticle homeobox 2
PubMed Reports
342 Synovial sarcoma  (Dec 29, 2023)
Cancer disorders SSX2 SSX family member 2
PubMed Reports
343 T-cell large granular lymphocyte leukemia  (Feb 20, 2024)
Blood disorders STAT3 signal transducer and activator of transcription 3
PubMed Reports
344 Tarsal-carpal coalition syndrome  (Feb 01, 2024)
Autosomal dominant
Bone disorders NOG noggin
PubMed Reports
345 Thanatophoric dysplasia  (Nov 30, 2023)
Autosomal dominant
Bone disorders FGFR3 fibroblast growth factor receptor 3
PubMed Reports
346 TNF receptor-associated periodic fever syndrome  (Sep 05, 2023)
Autosomal dominant
Immune disorders TNFRSF1A TNF receptor superfamily member 1A
PubMed Reports
347 Transverse myelitis  (Sep 05, 2023)
Immune disorders VPS37A VPS37A subunit of ESCRT-I
PubMed Reports
348 Trichorhinophalangeal syndrome  (Dec 29, 2023)
Autosomal dominant
Bone disorders TRPS1 transcriptional repressor GATA binding 1
PubMed Reports
349 Triglyceride storage disease with ichthyosis  (Mar 09, 2023)
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
PubMed Reports
350 Trimethylaminuria  (Mar 09, 2023)
Autosomal recessive
Metabolic disorders FMO3 flavin containing dimethylaniline monoxygenase 3
PubMed Reports